Hereditary ataxia
Overview
Hereditary ataxia: A group of rare genetic neuromuscular disorder involving degeneration of the brain and spinal cord.
Symptoms
The list of signs and symptoms mentioned in various sources for Hereditary ataxia includes the 7 symptoms listed below: * Impaired coordination of movement * Degenerative changes in brain * Degenerative changes in spinal cord * Wide-based gait * Unsteady gait * Speech problems * Impaired eye movement control Note that Hereditary ataxia symptoms usually refers to various symptoms known to a patient, but the phrase Hereditary ataxia signs may refer to those signs only noticable by a doctor.
Causes
* Speech problems * Unsteady gait
Diagnosis
The wise clinician should consider a neurologic referral at the outset. If there is vertigo, tinnitus, or deafness, then an audiogram and caloric testing should be done. If these suggest eighth nerve damage, then a CT scan or MRI of the brain should be done. Headaches, sustained nystagmus, or papilledema are other indications for a CT scan or MRI. If multiple sclerosis is suspected, MRI of the brain is very useful, as well as spinal fluid for gamma globulin and myelin basic protein. Perhaps VEP, brain stem evoked potential (BSEP), or SSEP studies should be done. If vascular disease is suspected, magnetic resonance angiography will allow assessment of the vertebral-basilar arteries. If this is not available, four-vessel cerebral angiography may be utilized. Patients with hypoactive reflexes and glove and stocking hypoesthesia and hypalgesia will need a neuropathy workup . When there is ataxia in the presence of a normal neurologic examination, referral to a psychologist for psychometric testing should be done.
Prognosis
The prognosis for individuals with ataxia and cerebellar/spinocerebellar degeneration varies depending on its underlying cause.
Treatment
There is no cure for the hereditary ataxias. If the ataxia is caused by another condition, that underlying condition is treated first. For example, ataxia caused by a metabolic disorder may be treated with medications and a controlled diet. Vitamin deficiency is treated with vitamin therapy. A variety of drugs may be used to treat gait and swallowing disorders. Physical therapy can strengthen muscles, while special devices or appliances can assist in walking and other activities of daily life.